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severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
Disease Summary
Associated Targets ()
Mondo Description Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14.
Mondo Term and Equivalent IDs
MONDO:0019786: severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
Orphanet:94066:
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
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Orphanet:94066
MONDO:0019786
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